ClinVar

NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)

Gene:

RBM20:RNA binding motif protein 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110781138 (on Assembly GRCh38)
• Chr10: 112540896 (on Assembly GRCh37)

Preferred name:

NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)

HGVS:

• NC_000010.11:g.110781138A>T
• NG_021177.1:g.141742A>T
• NM_001134363.3:c.529A>TMANE SELECT
• NP_001127835.2:p.Thr177Ser
• LRG_382t1:c.529A>T
• LRG_382:g.141742A>T
• NC_000010.10:g.112540896A>T
• NM_001134363.1:c.529A>T
• NM_001134363.2:c.529A>T
• c.529A>T

This HGVS expression did not pass validation

Protein change:

T177S

Links:

dbSNP: rs397516621

NCBI 1000 Genomes Browser:

rs397516621

Molecular consequence:

• NM_001134363.3:c.529A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1